Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80108679_80116948del | CA913184754 | GAA | c.1195-18_2190-20del c.1195-18_*328-20del | |
17 | g.80108678_80116951del | CA658795244 | GAA | c.1195-19_2190-17del c.1195-19_*328-17del | ClinVar |
17 | g.80111485_80118678del | CA10654926 | GAA | c.1636+460_2672del c.1636+460_*810del | ClinVar |
17 | g.80112099_80118805del | CA913184762 | GAA | c.1753_2799del c.1753_*937del | |
17 | g.80113256G>A | CA502179146 | GAA | c.2079G>A (p.Gln693=) c.*217G>A (n.*217G>A) n.519G>A c.498G>A | |
17 | g.80113256G>C | CA401370450 | GAA | c.2079G>C (p.Gln693His) c.*217G>C (n.*217G>C) n.519G>C c.498G>C | dbSNP gnomAD v4 |
17 | g.80113256G>T | CA401370451 | GAA | c.2079G>T (p.Gln693His) c.*217G>T (n.*217G>T) n.519G>T c.498G>T | gnomAD v4 |
17 | g.80113257G>A | CA401370454 | GAA | c.2080G>A (p.Ala694Thr) c.*218G>A (n.*218G>A) n.520G>A c.499G>A | gnomAD v4 |
17 | g.80113257G>C | CA401370453 | GAA | c.2080G>C (p.Ala694Pro) c.*218G>C (n.*218G>C) n.520G>C c.499G>C | |
17 | g.80113257G>T | CA401370452 | GAA | c.2080G>T (p.Ala694Ser) c.*218G>T (n.*218G>T) n.520G>T c.499G>T | gnomAD v4 |
17 | g.80113257_80113258delinsGC | CA2277815447 | GAA | c.2080_2081delinsGC (p.Ala694=) c.*218_*219delinsGC (n.*218_*219delinsGC) n.520_521delinsGC c.499_500delinsGC | |
17 | g.80113258C>A | CA401370455 | GAA | c.2081C>A (p.Ala694Asp) c.*219C>A (n.*219C>A) n.521C>A c.500C>A | gnomAD v4 |
17 | g.80113258C>G | CA401370456 | GAA | c.2081C>G (p.Ala694Gly) c.*219C>G (n.*219C>G) n.521C>G c.500C>G | |
17 | g.80113258C>T | CA401370457 | GAA | c.2081C>T (p.Ala694Val) c.*219C>T (n.*219C>T) n.521C>T c.500C>T | gnomAD v4 |
17 | g.80113259del | CA916082441 | GAA | c.2082del (p.Met695Ter) c.*220del (n.*220del) n.522del c.501del | ClinVar dbSNP |
17 | g.80113259C>A | CA502179147 | GAA | c.2082C>A (p.Ala694=) c.*220C>A (n.*220C>A) n.522C>A c.501C>A | gnomAD v4 |
17 | g.80113259C>G | CA502179151 | GAA | c.2082C>G (p.Ala694=) c.*220C>G (n.*220C>G) n.522C>G c.501C>G | |
17 | g.80113259C>T | CA502179149 | GAA | c.2082C>T (p.Ala694=) c.*220C>T (n.*220C>T) n.522C>T c.501C>T | ClinVar |
17 | g.80113260A= | CA2277815449 | GAA | c.2083A= (p.Met695=) c.*221A= (n.*221A=) n.523A= c.502A= | |
17 | g.80113260A>C | CA401370458 | GAA | c.2083A>C (p.Met695Leu) c.*221A>C (n.*221A>C) n.523A>C c.502A>C | dbSNP |
17 | g.80113260A>G | CA401370459 | GAA | c.2083A>G (p.Met695Val) c.*221A>G (n.*221A>G) n.523A>G c.502A>G | dbSNP |
17 | g.80113260A>T | CA401370460 | GAA | c.2083A>T (p.Met695Leu) c.*221A>T (n.*221A>T) n.523A>T c.502A>T | |
17 | g.80113261T>A | CA401370461 | GAA | c.2084T>A (p.Met695Lys) c.*222T>A (n.*222T>A) n.524T>A c.503T>A | |
17 | g.80113261T>C | CA401370462 | GAA | c.2084T>C (p.Met695Thr) c.*222T>C (n.*222T>C) n.524T>C c.503T>C | ClinVar dbSNP gnomAD v4 |
17 | g.80113261T>G | CA401370463 | GAA | c.2084T>G (p.Met695Arg) c.*222T>G (n.*222T>G) n.524T>G c.503T>G | |
17 | g.80113261dup | CA919905223 | GAA | c.2084dup (p.Met695IlefsTer?) c.*222dup (n.*222dup) n.524dup c.503dup | dbSNP |
17 | g.80113262G>A | CA401370464 | GAA | c.2085G>A (p.Met695Ile) c.*223G>A (n.*223G>A) n.525G>A c.504G>A | gnomAD v4 |
17 | g.80113262G>C | CA401370465 | GAA | c.2085G>C (p.Met695Ile) c.*223G>C (n.*223G>C) n.525G>C c.504G>C | |
17 | g.80113262G>T | CA401370466 | GAA | c.2085G>T (p.Met695Ile) c.*223G>T (n.*223G>T) n.525G>T c.504G>T | gnomAD v4 |
17 | g.80113263A>C | CA502179158 | GAA | c.2086A>C (p.Arg696=) c.*224A>C (n.*224A>C) n.526A>C c.505A>C | |
17 | g.80113263A>G | CA401370467 | GAA | c.2086A>G (p.Arg696Gly) c.*224A>G (n.*224A>G) n.526A>G c.505A>G | gnomAD v4 |
17 | g.80113263A>T | CA401370468 | GAA | c.2086A>T (p.Arg696Trp) c.*224A>T (n.*224A>T) n.526A>T c.505A>T | |
17 | g.80113264G>A | CA401370470 | GAA | c.2087G>A (p.Arg696Lys) c.*225G>A (n.*225G>A) n.527G>A c.506G>A | gnomAD v4 |
17 | g.80113264G>C | CA401370471 | GAA | c.2087G>C (p.Arg696Thr) c.*225G>C (n.*225G>C) n.527G>C c.506G>C | |
17 | g.80113264G>T | CA401370469 | GAA | c.2087G>T (p.Arg696Met) c.*225G>T (n.*225G>T) n.527G>T c.506G>T | gnomAD v4 |
17 | g.80113265del | CA2580095814 | GAA | c.2088del (p.Lys697ArgfsTer?) c.*226del (n.*226del) n.528del c.507del | ClinVar |
17 | g.80113265G>A | CA502179160 | GAA | c.2088G>A (p.Arg696=) c.*226G>A (n.*226G>A) n.528G>A c.507G>A | ClinVar dbSNP gnomAD v4 |
17 | g.80113265G>C | CA401370473 | GAA | c.2088G>C (p.Arg696Ser) c.*226G>C (n.*226G>C) n.528G>C c.507G>C | |
17 | g.80113265G>T | CA401370472 | GAA | c.2088G>T (p.Arg696Ser) c.*226G>T (n.*226G>T) n.528G>T c.507G>T | |
17 | g.80113266A>C | CA401370475 | GAA | c.2089A>C (p.Lys697Gln) c.*227A>C (n.*227A>C) n.529A>C c.508A>C | |
17 | g.80113266A>G | CA401370474 | GAA | c.2089A>G (p.Lys697Glu) c.*227A>G (n.*227A>G) n.529A>G c.508A>G | gnomAD v4 |
17 | g.80113266A>T | CA401370476 | GAA | c.2089A>T (p.Lys697Ter) c.*227A>T (n.*227A>T) n.529A>T c.508A>T | |
17 | g.80113267A>C | CA401370477 | GAA | c.2090A>C (p.Lys697Thr) c.*228A>C (n.*228A>C) n.530A>C c.509A>C | gnomAD v4 |
17 | g.80113267A>G | CA401370478 | GAA | c.2090A>G (p.Lys697Arg) c.*228A>G (n.*228A>G) n.530A>G c.509A>G | gnomAD v4 |
17 | g.80113267A>T | CA401370479 | GAA | c.2090A>T (p.Lys697Met) c.*228A>T (n.*228A>T) n.530A>T c.509A>T | |
17 | g.80113268G>A | CA502179164 | GAA | c.2091G>A (p.Lys697=) c.*229G>A (n.*229G>A) n.531G>A c.510G>A | ClinVar dbSNP gnomAD v4 |
17 | g.80113268G>C | CA401370480 | GAA | c.2091G>C (p.Lys697Asn) c.*229G>C (n.*229G>C) n.531G>C c.510G>C | |
17 | g.80113268G>T | CA401370481 | GAA | c.2091G>T (p.Lys697Asn) c.*229G>T (n.*229G>T) n.531G>T c.510G>T | |
17 | g.80113269G>A | CA198794 | GAA | c.2092G>A (p.Ala698Thr) c.*230G>A (n.*230G>A) n.532G>A c.511G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113269G>C | CA401370483 | GAA | c.2092G>C (p.Ala698Pro) c.*230G>C (n.*230G>C) n.532G>C c.511G>C | gnomAD v4 |
17 | g.80113269G= | CA2277815452 | GAA | c.2092G= (p.Ala698=) c.*230G= (n.*230G=) n.532G= c.511G= | |
17 | g.80113269G>T | CA401370482 | GAA | c.2092G>T (p.Ala698Ser) c.*230G>T (n.*230G>T) n.532G>T c.511G>T | gnomAD v4 |
17 | g.80113269_80113276del | CA2697555244 | GAA | c.2092_2099del (p.Ala698ProfsTer?) c.*230_*237del (n.*230_*237del) c.511_518del | ClinVar |
17 | g.80113270C>A | CA294897317 | GAA | c.2093C>A (p.Ala698Asp) c.*231C>A (n.*231C>A) n.533C>A c.512C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80113270C= | CA2277815454 | GAA | c.2093C= (p.Ala698=) c.*231C= (n.*231C=) n.533C= c.512C= | |
17 | g.80113270C>G | CA401370484 | GAA | c.2093C>G (p.Ala698Gly) c.*231C>G (n.*231C>G) n.533C>G c.512C>G | |
17 | g.80113270C>T | CA401370485 | GAA | c.2093C>T (p.Ala698Val) c.*231C>T (n.*231C>T) n.533C>T c.512C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80113272dup | CA2573154944 | GAA | c.2095dup (p.Leu699ProfsTer?) c.*233dup (n.*233dup) c.514dup | ClinVar dbSNP |
17 | g.80113274_80113279del | CA658795273 | GAA | c.2097_2102del (p.Thr700_Leu701del) c.*235_*240del (n.*235_*240del) c.516_521del | |
17 | g.80113271C>A | CA502179165 | GAA | c.2094C>A (p.Ala698=) c.*232C>A (n.*232C>A) n.534C>A c.513C>A | gnomAD v4 |
17 | g.80113271C>G | CA502179166 | GAA | c.2094C>G (p.Ala698=) c.*232C>G (n.*232C>G) n.534C>G c.513C>G | |
17 | g.80113271C>T | CA502179168 | GAA | c.2094C>T (p.Ala698=) c.*232C>T (n.*232C>T) n.534C>T c.513C>T | gnomAD v4 |
17 | g.80113272C>A | CA401370486 | GAA | c.2095C>A (p.Leu699Ile) c.*233C>A (n.*233C>A) c.514C>A | gnomAD v4 |
17 | g.80113272C= | CA2277815456 | GAA | c.2095C= (p.Leu699=) c.*233C= (n.*233C=) c.514C= | |
17 | g.80113272C>G | CA401370487 | GAA | c.2095C>G (p.Leu699Val) c.*233C>G (n.*233C>G) c.514C>G | |
17 | g.80113272C>T | CA401370488 | GAA | c.2095C>T (p.Leu699Phe) c.*233C>T (n.*233C>T) c.514C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80113273T>A | CA401370491 | GAA | c.2096T>A (p.Leu699His) c.*234T>A (n.*234T>A) c.515T>A | |
17 | g.80113273T>C | CA401370489 | GAA | c.2096T>C (p.Leu699Pro) c.*234T>C (n.*234T>C) c.515T>C | ClinVar dbSNP gnomAD v4 |
17 | g.80113273T>G | CA401370490 | GAA | c.2096T>G (p.Leu699Arg) c.*234T>G (n.*234T>G) c.515T>G | |
17 | g.80113273T= | CA2277815457 | GAA | c.2096T= (p.Leu699=) c.*234T= (n.*234T=) c.515T= | |
17 | g.80113274C>A | CA502179171 | GAA | c.2097C>A (p.Leu699=) c.*235C>A (n.*235C>A) c.516C>A | gnomAD v4 |
17 | g.80113274C= | CA2277815458 | GAA | c.2097C= (p.Leu699=) c.*235C= (n.*235C=) c.516C= | |
17 | g.80113274C>G | CA502179173 | GAA | c.2097C>G (p.Leu699=) c.*235C>G (n.*235C>G) c.516C>G | |
17 | g.80113274C>T | CA502179172 | GAA | c.2097C>T (p.Leu699=) c.*235C>T (n.*235C>T) c.516C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80113274_80113275insTTTTTTA | CA986708715 | GAA | c.2097_2098insTTTTTTA (p.Thr700PhefsTer?) c.*235_*236insTTTTTTA (n.*235_*236insTTTTTTA) c.516_517insTTTTTTA | gnomAD v3 gnomAD v4 |
17 | g.80113275A= | CA2277815460 | GAA | c.2098A= (p.Thr700=) c.*236A= (n.*236A=) c.517A= | |
17 | g.80113275A>C | CA401370492 | GAA | c.2098A>C (p.Thr700Pro) c.*236A>C (n.*236A>C) c.517A>C | gnomAD v4 |
17 | g.80113275A>G | CA294897331 | GAA | c.2098A>G (p.Thr700Ala) c.*236A>G (n.*236A>G) c.517A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113275A>T | CA401370493 | GAA | c.2098A>T (p.Thr700Ser) c.*236A>T (n.*236A>T) c.517A>T | gnomAD v4 |
17 | g.80113276C>A | CA401370494 | GAA | c.2099C>A (p.Thr700Asn) c.*237C>A (n.*237C>A) c.518C>A | gnomAD v4 |
17 | g.80113276C= | CA2277815462 | GAA | c.2099C= (p.Thr700=) c.*237C= (n.*237C=) c.518C= | |
17 | g.80113276C>G | CA401370495 | GAA | c.2099C>G (p.Thr700Ser) c.*237C>G (n.*237C>G) c.518C>G | |
17 | g.80113276C>T | CA401370496 | GAA | c.2099C>T (p.Thr700Ile) c.*237C>T (n.*237C>T) c.518C>T | ClinVar dbSNP gnomAD v4 |
17 | g.80113276_80113278del | CA986708720 | GAA | c.2099_2101del (p.Thr700_Leu701delinsMet) c.*237_*239del (n.*237_*239del) c.518_520del | gnomAD v3 gnomAD v4 |
17 | g.80113277C>A | CA502179177 | GAA | c.2100C>A (p.Thr700=) c.*238C>A (n.*238C>A) c.519C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113277C= | CA2277815464 | GAA | c.2100C= (p.Thr700=) c.*238C= (n.*238C=) c.519C= | |
17 | g.80113277C>G | CA502179178 | GAA | c.2100C>G (p.Thr700=) c.*238C>G (n.*238C>G) c.519C>G | |
17 | g.80113277C>T | CA294897342 | GAA | c.2100C>T (p.Thr700=) c.*238C>T (n.*238C>T) c.519C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113278C>A | CA401370497 | GAA | c.2101C>A (p.Leu701Met) c.*239C>A (n.*239C>A) c.520C>A | gnomAD v4 |
17 | g.80113278C= | CA2277815466 | GAA | c.2101C= (p.Leu701=) c.*239C= (n.*239C=) c.520C= | |
17 | g.80113278C>G | CA401370498 | GAA | c.2101C>G (p.Leu701Val) c.*239C>G (n.*239C>G) c.520C>G | ClinVar |
17 | g.80113278C>T | CA8815609 | GAA | c.2101C>T (p.Leu701=) c.*239C>T (n.*239C>T) c.520C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80113279T>A | CA401370499 | GAA | c.2102T>A (p.Leu701Gln) c.*240T>A (n.*240T>A) c.521T>A | gnomAD v4 |
17 | g.80113279T>C | CA401370500 | GAA | c.2102T>C (p.Leu701Pro) c.*240T>C (n.*240T>C) c.521T>C | gnomAD v4 |
17 | g.80113279T>G | CA401370501 | GAA | c.2102T>G (p.Leu701Arg) c.*240T>G (n.*240T>G) c.521T>G | |
17 | g.80113280G>A | CA502179182 | GAA | c.2103G>A (p.Leu701=) c.*241G>A (n.*241G>A) c.522G>A | gnomAD v4 |
17 | g.80113280G>C | CA502179180 | GAA | c.2103G>C (p.Leu701=) c.*241G>C (n.*241G>C) c.522G>C | |
17 | g.80113280G>T | CA502179181 | GAA | c.2103G>T (p.Leu701=) c.*241G>T (n.*241G>T) c.522G>T | gnomAD v4 |
17 | g.80113282_80113283del | CA986708733 | GAA | c.2105_2106del (p.Arg702LeufsTer?) c.*243_*244del (n.*243_*244del) c.524_525del | gnomAD v3 gnomAD v4 |
17 | g.80113281C>A | CA401370503 | GAA | c.2104C>A (p.Arg702Ser) c.*242C>A (n.*242C>A) c.523C>A | |
17 | g.80113281C= | CA2277815468 | GAA | c.2104C= (p.Arg702=) c.*242C= (n.*242C=) c.523C= | |
17 | g.80113281C>G | CA401370502 | GAA | c.2104C>G (p.Arg702Gly) c.*242C>G (n.*242C>G) c.523C>G | |
17 | g.80113281C>T | CA274304 | GAA | c.2104C>T (p.Arg702Cys) c.*242C>T (n.*242C>T) c.523C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113282G>A | CA8815610 | GAA | c.2105G>A (p.Arg702His) c.*243G>A (n.*243G>A) c.524G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113282G>C | CA401370504 | GAA | c.2105G>C (p.Arg702Pro) c.*243G>C (n.*243G>C) c.524G>C | ClinVar dbSNP gnomAD v4 |
17 | g.80113282G= | CA2277815471 | GAA | c.2105G= (p.Arg702=) c.*243G= (n.*243G=) c.524G= | |
17 | g.80113282G>T | CA220396 | GAA | c.2105G>T (p.Arg702Leu) c.*243G>T (n.*243G>T) c.524G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80113283C>A | CA502179186 | GAA | c.2106C>A (p.Arg702=) c.*244C>A (n.*244C>A) c.525C>A | gnomAD v3 gnomAD v4 |
17 | g.80113283C>G | CA502179187 | GAA | c.2106C>G (p.Arg702=) c.*244C>G (n.*244C>G) c.525C>G | gnomAD v4 |
17 | g.80113283C>T | CA502179188 | GAA | c.2106C>T (p.Arg702=) c.*244C>T (n.*244C>T) c.525C>T | |
17 | g.80113284T>A | CA401370505 | GAA | c.2107T>A (p.Tyr703Asn) c.*245T>A (n.*245T>A) c.526T>A | |
17 | g.80113284T>C | CA401370506 | GAA | c.2107T>C (p.Tyr703His) c.*245T>C (n.*245T>C) c.526T>C | |
17 | g.80113284T>G | CA401370507 | GAA | c.2107T>G (p.Tyr703Asp) c.*245T>G (n.*245T>G) c.526T>G | |
17 | g.80113285A= | CA2277815473 | GAA | c.2108A= (p.Tyr703=) c.*246A= (n.*246A=) c.527A= | |
17 | g.80113285A>C | CA401370508 | GAA | c.2108A>C (p.Tyr703Ser) c.*246A>C (n.*246A>C) c.527A>C | |
17 | g.80113285A>G | CA294897382 | GAA | c.2108A>G (p.Tyr703Cys) c.*246A>G (n.*246A>G) c.527A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80113285A>T | CA401370509 | GAA | c.2108A>T (p.Tyr703Phe) c.*246A>T (n.*246A>T) c.527A>T | |
17 | g.80113285_80113286delinsAC | CA2277815474 | GAA | c.2108_2109delinsAC (p.Tyr703=) c.*246_*247delinsAC (n.*246_*247delinsAC) c.527_528delinsAC | |
17 | g.80113286del | CA891862616 | GAA | c.2109del (p.Tyr703Ter) c.*247del (n.*247del) c.528del | dbSNP |
17 | g.80113286C>A | CA401370510 | GAA | c.2109C>A (p.Tyr703Ter) c.*247C>A (n.*247C>A) c.528C>A | ClinVar dbSNP gnomAD v4 |
17 | g.80113286C= | CA2277815476 | GAA | c.2109C= (p.Tyr703=) c.*247C= (n.*247C=) c.528C= | |
17 | g.80113286C>G | CA401370511 | GAA | c.2109C>G (p.Tyr703Ter) c.*247C>G (n.*247C>G) c.528C>G | ClinVar |
17 | g.80113286C>T | CA8815611 | GAA | c.2109C>T (p.Tyr703=) c.*247C>T (n.*247C>T) c.528C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113287G>A | CA8815612 | GAA | c.2110G>A (p.Ala704Thr) c.*248G>A (n.*248G>A) c.529G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113287G>C | CA401370513 | GAA | c.2110G>C (p.Ala704Pro) c.*248G>C (n.*248G>C) c.529G>C | ClinVar dbSNP |
17 | g.80113287G= | CA2277815478 | GAA | c.2110G= (p.Ala704=) c.*248G= (n.*248G=) c.529G= | |
17 | g.80113287G>T | CA401370512 | GAA | c.2110G>T (p.Ala704Ser) c.*248G>T (n.*248G>T) c.529G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113287dup | CA986708765 | GAA | c.2110dup (p.Ala704GlyfsTer?) c.*248dup (n.*248dup) c.529dup | gnomAD v3 gnomAD v4 |
17 | g.80113287_80113288insGCTT | CA2810586093 | GAA | c.2110_2111insGCTT (p.Ala704GlyfsTer?) c.*248_*249insGCTT (n.*248_*249insGCTT) c.529_530insGCTT | |
17 | g.80113288C>A | CA401370514 | GAA | c.2111C>A (p.Ala704Glu) c.*249C>A (n.*249C>A) c.530C>A | gnomAD v4 |
17 | g.80113288C>G | CA401370515 | GAA | c.2111C>G (p.Ala704Gly) c.*249C>G (n.*249C>G) c.530C>G | |
17 | g.80113288C>T | CA401370516 | GAA | c.2111C>T (p.Ala704Val) c.*249C>T (n.*249C>T) c.530C>T | gnomAD v4 |
17 | g.80113288_80113289insG | CA986708769 | GAA | c.2111_2112insG (p.Leu705ThrfsTer?) c.*249_*250insG (n.*249_*250insG) c.530_531insG | gnomAD v3 gnomAD v4 |
17 | g.80113289A= | CA2277815480 | GAA | c.2112A= (p.Ala704=) c.*250A= (n.*250A=) c.531A= | |
17 | g.80113289A>C | CA502179195 | GAA | c.2112A>C (p.Ala704=) c.*250A>C (n.*250A>C) c.531A>C | ClinVar dbSNP gnomAD v4 |
17 | g.80113289A>G | CA502179196 | GAA | c.2112A>G (p.Ala704=) c.*250A>G (n.*250A>G) c.531A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.80113289A>T | CA502179197 | GAA | c.2112A>T (p.Ala704=) c.*250A>T (n.*250A>T) c.531A>T | gnomAD v4 |
17 | g.80113290C>A | CA401370517 | GAA | c.2113C>A (p.Leu705Ile) c.*251C>A (n.*251C>A) c.532C>A | gnomAD v4 |
17 | g.80113290C>G | CA401370518 | GAA | c.2113C>G (p.Leu705Val) c.*251C>G (n.*251C>G) c.532C>G | gnomAD v4 |
17 | g.80113290C>T | CA401370519 | GAA | c.2113C>T (p.Leu705Phe) c.*251C>T (n.*251C>T) c.532C>T | gnomAD v4 |
17 | g.80113291_80113298del | CA986708772 | GAA | c.2114_2121del (p.Leu705ProfsTer29) c.*252_*259del (n.*252_*259del) c.533_540del | gnomAD v3 gnomAD v4 |
17 | g.80113291T>A | CA401370520 | GAA | c.2114T>A (p.Leu705His) c.*252T>A (n.*252T>A) c.533T>A | |
17 | g.80113291T>C | CA401370521 | GAA | c.2114T>C (p.Leu705Pro) c.*252T>C (n.*252T>C) c.533T>C | |
17 | g.80113291T>G | CA401370522 | GAA | c.2114T>G (p.Leu705Arg) c.*252T>G (n.*252T>G) c.533T>G | |
17 | g.80113292C>A | CA502179201 | GAA | c.2115C>A (p.Leu705=) c.*253C>A (n.*253C>A) c.534C>A | gnomAD v4 |
17 | g.80113292C= | CA2277815482 | GAA | c.2115C= (p.Leu705=) c.*253C= (n.*253C=) c.534C= | |
17 | g.80113292C>G | CA502179202 | GAA | c.2115C>G (p.Leu705=) c.*253C>G (n.*253C>G) c.534C>G | ClinVar |
17 | g.80113292C>T | CA8815613 | GAA | c.2115C>T (p.Leu705=) c.*253C>T (n.*253C>T) c.534C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80113293C>A | CA401370523 | GAA | c.2116C>A (p.Leu706Ile) c.*254C>A (n.*254C>A) c.535C>A | gnomAD v4 |
17 | g.80113293C= | CA2277815485 | GAA | c.2116C= (p.Leu706=) c.*254C= (n.*254C=) c.535C= | |
17 | g.80113293C>G | CA401370524 | GAA | c.2116C>G (p.Leu706Val) c.*254C>G (n.*254C>G) c.535C>G | |
17 | g.80113293C>T | CA401370525 | GAA | c.2116C>T (p.Leu706Phe) c.*254C>T (n.*254C>T) c.535C>T | dbSNP gnomAD v4 |
17 | g.80113294T>A | CA401370527 | GAA | c.2117T>A (p.Leu706His) c.*255T>A (n.*255T>A) c.536T>A | |
17 | g.80113294T>C | CA401370528 | GAA | c.2117T>C (p.Leu706Pro) c.*255T>C (n.*255T>C) c.536T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80113294T>G | CA401370526 | GAA | c.2117T>G (p.Leu706Arg) c.*255T>G (n.*255T>G) c.536T>G | |
17 | g.80113294T= | CA2277815486 | GAA | c.2117T= (p.Leu706=) c.*255T= (n.*255T=) c.536T= | |
17 | g.80113295C>A | CA502179204 | GAA | c.2118C>A (p.Leu706=) c.*256C>A (n.*256C>A) c.537C>A | gnomAD v4 |
17 | g.80113295C= | CA2277815487 | GAA | c.2118C= (p.Leu706=) c.*256C= (n.*256C=) c.537C= | |
17 | g.80113295C>G | CA502179205 | GAA | c.2118C>G (p.Leu706=) c.*256C>G (n.*256C>G) c.537C>G | ClinVar dbSNP gnomAD v4 |
17 | g.80113295C>T | CA502179207 | GAA | c.2118C>T (p.Leu706=) c.*256C>T (n.*256C>T) c.537C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113299dup | CA2695200364 | GAA | c.2122dup (p.His708ProfsTer29) c.*260dup (n.*260dup) c.541dup | ClinVar |
17 | g.80113299del | CA2580612686 | GAA | c.2122del (p.His708ThrfsTer?) c.*260del (n.*260del) c.541del | ClinVar gnomAD v4 |
17 | g.80113296C>A | CA401370529 | GAA | c.2119C>A (p.Pro707Thr) c.*257C>A (n.*257C>A) c.538C>A | gnomAD v4 |
17 | g.80113296C>G | CA401370531 | GAA | c.2119C>G (p.Pro707Ala) c.*257C>G (n.*257C>G) c.538C>G | |
17 | g.80113296C>T | CA401370530 | GAA | c.2119C>T (p.Pro707Ser) c.*257C>T (n.*257C>T) c.538C>T | |
17 | g.80113297C>A | CA401370532 | GAA | c.2120C>A (p.Pro707His) c.*258C>A (n.*258C>A) c.539C>A | gnomAD v4 |
17 | g.80113297C= | CA2277815489 | GAA | c.2120C= (p.Pro707=) c.*258C= (n.*258C=) c.539C= | |
17 | g.80113297C>G | CA401370533 | GAA | c.2120C>G (p.Pro707Arg) c.*258C>G (n.*258C>G) c.539C>G | gnomAD v4 |
17 | g.80113297C>T | CA294897393 | GAA | c.2120C>T (p.Pro707Leu) c.*258C>T (n.*258C>T) c.539C>T | ClinVar dbSNP gnomAD v2 |
17 | g.80113298C>A | CA502179209 | GAA | c.2121C>A (p.Pro707=) c.*259C>A (n.*259C>A) c.540C>A | gnomAD v4 |
17 | g.80113298C= | CA2277815490 | GAA | c.2121C= (p.Pro707=) c.*259C= (n.*259C=) c.540C= | |
17 | g.80113298C>G | CA502179211 | GAA | c.2121C>G (p.Pro707=) c.*259C>G (n.*259C>G) c.540C>G | |
17 | g.80113298C>T | CA8815614 | GAA | c.2121C>T (p.Pro707=) c.*259C>T (n.*259C>T) c.540C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80113298_80113299insG | CA628018664 | GAA | c.2121_2122insG (p.His708AlafsTer29) c.*259_*260insG (n.*259_*260insG) c.540_541insG | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80113299C>A | CA8815615 | GAA | c.2122C>A (p.His708Asn) c.*260C>A (n.*260C>A) c.541C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80113299C= | CA2277815493 | GAA | c.2122C= (p.His708=) c.*260C= (n.*260C=) c.541C= | |
17 | g.80113299C>G | CA8815616 | GAA | c.2122C>G (p.His708Asp) c.*260C>G (n.*260C>G) c.541C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113299C>T | CA8815617 | GAA | c.2122C>T (p.His708Tyr) c.*260C>T (n.*260C>T) c.541C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113300A= | CA2277815494 | GAA | c.2123A= (p.His708=) c.*261A= (n.*261A=) c.542A= | |
17 | g.80113300A>C | CA401370534 | GAA | c.2123A>C (p.His708Pro) c.*261A>C (n.*261A>C) c.542A>C | |
17 | g.80113300A>G | CA401370535 | GAA | c.2123A>G (p.His708Arg) c.*261A>G (n.*261A>G) c.542A>G | |
17 | g.80113300A>T | CA8815618 | GAA | c.2123A>T (p.His708Leu) c.*261A>T (n.*261A>T) c.542A>T | dbSNP ExAC |
17 | g.80113301C>A | CA401370537 | GAA | c.2124C>A (p.His708Gln) c.*262C>A (n.*262C>A) c.543C>A | |
17 | g.80113301C= | CA2277815495 | GAA | c.2124C= (p.His708=) c.*262C= (n.*262C=) c.543C= | |
17 | g.80113301C>G | CA401370536 | GAA | c.2124C>G (p.His708Gln) c.*262C>G (n.*262C>G) c.543C>G | ClinVar dbSNP gnomAD v4 |
17 | g.80113301C>T | CA8815619 | GAA | c.2124C>T (p.His708=) c.*262C>T (n.*262C>T) c.543C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80113302C>A | CA401370538 | GAA | c.2125C>A (p.Leu709Ile) c.*263C>A (n.*263C>A) c.544C>A | gnomAD v4 |
17 | g.80113302C>G | CA401370539 | GAA | c.2125C>G (p.Leu709Val) c.*263C>G (n.*263C>G) c.544C>G | |
17 | g.80113302C>T | CA401370540 | GAA | c.2125C>T (p.Leu709Phe) c.*263C>T (n.*263C>T) c.544C>T | |
17 | g.80113302_80113303insGAGA | CA986708781 | GAA | c.2125_2126insGAGA (p.Leu709ArgfsTer29) c.*263_*264insGAGA (n.*263_*264insGAGA) c.544_545insGAGA | gnomAD v3 gnomAD v4 |
17 | g.80113303T>A | CA401370541 | GAA | c.2126T>A (p.Leu709His) c.*264T>A (n.*264T>A) c.545T>A | |
17 | g.80113303T>C | CA401370542 | GAA | c.2126T>C (p.Leu709Pro) c.*264T>C (n.*264T>C) c.545T>C | |
17 | g.80113303T>G | CA401370543 | GAA | c.2126T>G (p.Leu709Arg) c.*264T>G (n.*264T>G) c.545T>G | |
17 | g.80113304C>A | CA502179218 | GAA | c.2127C>A (p.Leu709=) c.*265C>A (n.*265C>A) c.546C>A | gnomAD v4 |
17 | g.80113304C>G | CA502179219 | GAA | c.2127C>G (p.Leu709=) c.*265C>G (n.*265C>G) c.546C>G | COSMIC |
17 | g.80113304C>T | CA502179220 | GAA | c.2127C>T (p.Leu709=) c.*265C>T (n.*265C>T) c.546C>T | gnomAD v4 |
17 | g.80113305T>A | CA401370544 | GAA | c.2128T>A (p.Tyr710Asn) c.*266T>A (n.*266T>A) c.547T>A | |
17 | g.80113305T>C | CA401370545 | GAA | c.2128T>C (p.Tyr710His) c.*266T>C (n.*266T>C) c.547T>C | gnomAD v4 |
17 | g.80113305T>G | CA401370546 | GAA | c.2128T>G (p.Tyr710Asp) c.*266T>G (n.*266T>G) c.547T>G | |
17 | g.80113306A>C | CA401370547 | GAA | c.2129A>C (p.Tyr710Ser) c.*267A>C (n.*267A>C) c.548A>C | |
17 | g.80113306A>G | CA401370548 | GAA | c.2129A>G (p.Tyr710Cys) c.*267A>G (n.*267A>G) c.548A>G | gnomAD v4 |
17 | g.80113306A>T | CA401370549 | GAA | c.2129A>T (p.Tyr710Phe) c.*267A>T (n.*267A>T) c.548A>T | |
17 | g.80113307C>A | CA401370551 | GAA | c.2130C>A (p.Tyr710Ter) c.*268C>A (n.*268C>A) c.549C>A | ClinVar dbSNP gnomAD v4 |
17 | g.80113307C= | CA2277815496 | GAA | c.2130C= (p.Tyr710=) c.*268C= (n.*268C=) c.549C= | |
17 | g.80113307C>G | CA401370550 | GAA | c.2130C>G (p.Tyr710Ter) c.*268C>G (n.*268C>G) c.549C>G | |
17 | g.80113307C>T | CA502179222 | GAA | c.2130C>T (p.Tyr710=) c.*268C>T (n.*268C>T) c.549C>T | gnomAD v4 |
17 | g.80113308A>C | CA401370552 | GAA | c.2131A>C (p.Thr711Pro) c.*269A>C (n.*269A>C) c.550A>C | ClinVar dbSNP |
17 | g.80113308A>G | CA401370553 | GAA | c.2131A>G (p.Thr711Ala) c.*269A>G (n.*269A>G) c.550A>G | ClinVar dbSNP gnomAD v4 |
17 | g.80113308A>T | CA401370554 | GAA | c.2131A>T (p.Thr711Ser) c.*269A>T (n.*269A>T) c.550A>T | ClinVar |
17 | g.80113309C>A | CA401370555 | GAA | c.2132C>A (p.Thr711Lys) c.*270C>A (n.*270C>A) c.551C>A | |
17 | g.80113309C= | CA2277815497 | GAA | c.2132C= (p.Thr711=) c.*270C= (n.*270C=) c.551C= | |
17 | g.80113309C>G | CA8815620 | GAA | c.2132C>G (p.Thr711Arg) c.*270C>G (n.*270C>G) c.551C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80113309C>T | CA401370556 | GAA | c.2132C>T (p.Thr711Ile) c.*270C>T (n.*270C>T) c.551C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80113309_80113310delinsCA | CA2277815498 | GAA | c.2132_2133delinsCA (p.Thr711=) c.*270_*271delinsCA (n.*270_*271delinsCA) c.551_552delinsCA | |
17 | g.80113309_80113310delinsGG | CA658658713 | GAA | c.2132_2133delinsGG (p.Thr711Arg) c.*270_*271delinsGG (n.*270_*271delinsGG) c.551_552delinsGG | ClinVar dbSNP |
17 | g.80113309_80113310delinsTG | CA2573154945 | GAA | c.2132_2133delinsTG (p.Thr711Met) c.*270_*271delinsTG (n.*270_*271delinsTG) c.551_552delinsTG | ClinVar |
17 | g.80113310A= | CA2277815499 | GAA | c.2133A= (p.Thr711=) c.*271A= (n.*271A=) c.552A= | |
17 | g.80113310A>C | CA502179226 | GAA | c.2133A>C (p.Thr711=) c.*271A>C (n.*271A>C) c.552A>C | |
17 | g.80113310A>G | CA145765 | GAA | c.2133A>G (p.Thr711=) c.*271A>G (n.*271A>G) c.552A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113310A>T | CA502179227 | GAA | c.2133A>T (p.Thr711=) c.*271A>T (n.*271A>T) c.552A>T | dbSNP |
17 | g.80113311C>A | CA401370557 | GAA | c.2134C>A (p.Leu712Met) c.*272C>A (n.*272C>A) c.553C>A | dbSNP gnomAD v4 |
17 | g.80113311C= | CA2277815500 | GAA | c.2134C= (p.Leu712=) c.*272C= (n.*272C=) c.553C= | |
17 | g.80113311C>G | CA401370558 | GAA | c.2134C>G (p.Leu712Val) c.*272C>G (n.*272C>G) c.553C>G | |
17 | g.80113311C>T | CA8815621 | GAA | c.2134C>T (p.Leu712=) c.*272C>T (n.*272C>T) c.553C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80113311_80113313del | CA913014064 | GAA | c.2134_2136del (p.Leu712del) c.*272_*274del (n.*272_*274del) c.553_555del | |
17 | g.80113311_80113313delinsCTG | CA2277815501 | GAA | c.2134_2136delinsCTG (p.Leu712=) c.*272_*274delinsCTG (n.*272_*274delinsCTG) c.553_555delinsCTG | |
17 | g.80113312T>A | CA401370559 | GAA | c.2135T>A (p.Leu712Gln) c.*273T>A (n.*273T>A) c.554T>A | dbSNP |
17 | g.80113312T>C | CA401370560 | GAA | c.2135T>C (p.Leu712Pro) c.*273T>C (n.*273T>C) c.554T>C | gnomAD v4 |
17 | g.80113312T>G | CA401370561 | GAA | c.2135T>G (p.Leu712Arg) c.*273T>G (n.*273T>G) c.554T>G | |
17 | g.80113312T= | CA2277815502 | GAA | c.2135T= (p.Leu712=) c.*273T= (n.*273T=) c.554T= | |
17 | g.80113313_80113314del | CA658795274 | GAA | c.2136_2137del (p.Phe713ProfsTer23) c.*274_*275del (n.*274_*275del) c.555_556del | ClinVar dbSNP gnomAD v4 |
17 | g.80113313G>A | CA502179229 | GAA | c.2136G>A (p.Leu712=) c.*274G>A (n.*274G>A) c.555G>A | gnomAD v4 |
17 | g.80113313G>C | CA502179230 | GAA | c.2136G>C (p.Leu712=) c.*274G>C (n.*274G>C) c.555G>C | gnomAD v4 |
17 | g.80113313G>T | CA502179231 | GAA | c.2136G>T (p.Leu712=) c.*274G>T (n.*274G>T) c.555G>T | gnomAD v4 |
17 | g.80113314T>A | CA401370563 | GAA | c.2137T>A (p.Phe713Ile) c.*275T>A (n.*275T>A) c.556T>A | |
17 | g.80113314T>C | CA8815622 | GAA | c.2137T>C (p.Phe713Leu) c.*275T>C (n.*275T>C) c.556T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80113314T>G | CA401370562 | GAA | c.2137T>G (p.Phe713Val) c.*275T>G (n.*275T>G) c.556T>G | |
17 | g.80113314T= | CA2277815503 | GAA | c.2137T= (p.Phe713=) c.*275T= (n.*275T=) c.556T= | |
17 | g.80113315T>A | CA401370564 | GAA | c.2138T>A (p.Phe713Tyr) c.*276T>A (n.*276T>A) c.557T>A | |
17 | g.80113315T>C | CA401370565 | GAA | c.2138T>C (p.Phe713Ser) c.*276T>C (n.*276T>C) c.557T>C | gnomAD v4 |
17 | g.80113315T>G | CA401370566 | GAA | c.2138T>G (p.Phe713Cys) c.*276T>G (n.*276T>G) c.557T>G | |
17 | g.80113315_80113316delinsTC | CA2277815504 | GAA | c.2138_2139delinsTC (p.Phe713=) c.*276_*277delinsTC (n.*276_*277delinsTC) c.557_558delinsTC | |
17 | g.80113316C>A | CA401370567 | GAA | c.2139C>A (p.Phe713Leu) c.*277C>A (n.*277C>A) c.558C>A | gnomAD v4 |
17 | g.80113316C>G | CA401370568 | GAA | c.2139C>G (p.Phe713Leu) c.*277C>G (n.*277C>G) c.558C>G | |
17 | g.80113316C>T | CA502179236 | GAA | c.2139C>T (p.Phe713=) c.*277C>T (n.*277C>T) c.558C>T | gnomAD v4 COSMIC |
17 | g.80113317del | CA274107 | GAA | c.2140del (p.His714ThrfsTer?) c.*278del (n.*278del) c.559del | ClinVar dbSNP |
17 | g.80113317C>A | CA401370569 | GAA | c.2140C>A (p.His714Asn) c.*278C>A (n.*278C>A) c.559C>A | |
17 | g.80113317C= | CA2277815505 | GAA | c.2140C= (p.His714=) c.*278C= (n.*278C=) c.559C= | |
17 | g.80113317C>G | CA401370570 | GAA | c.2140C>G (p.His714Asp) c.*278C>G (n.*278C>G) c.559C>G | gnomAD v4 |
17 | g.80113317C>T | CA401370571 | GAA | c.2140C>T (p.His714Tyr) c.*278C>T (n.*278C>T) c.559C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80113318A= | CA2277815506 | GAA | c.2141A= (p.His714=) c.*279A= (n.*279A=) c.560A= | |
17 | g.80113318A>C | CA401370572 | GAA | c.2141A>C (p.His714Pro) c.*279A>C (n.*279A>C) c.560A>C | |
17 | g.80113318A>G | CA294897442 | GAA | c.2141A>G (p.His714Arg) c.*279A>G (n.*279A>G) c.560A>G | dbSNP |
17 | g.80113318A>T | CA401370573 | GAA | c.2141A>T (p.His714Leu) c.*279A>T (n.*279A>T) c.560A>T | |
17 | g.80113319C>A | CA401370574 | GAA | c.2142C>A (p.His714Gln) c.*280C>A (n.*280C>A) c.561C>A | gnomAD v4 |
17 | g.80113319C= | CA2277815507 | GAA | c.2142C= (p.His714=) c.*280C= (n.*280C=) c.561C= | |
17 | g.80113319C>G | CA401370575 | GAA | c.2142C>G (p.His714Gln) c.*280C>G (n.*280C>G) c.561C>G | |
17 | g.80113319C>T | CA8815623 | GAA | c.2142C>T (p.His714=) c.*280C>T (n.*280C>T) c.561C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113320del | CA2640297597 | GAA | c.2143del (p.Gln715ArgfsTer?) c.*281del (n.*281del) c.562del | gnomAD v4 |
17 | g.80113320C>A | CA401370576 | GAA | c.2143C>A (p.Gln715Lys) c.*281C>A (n.*281C>A) c.562C>A | gnomAD v4 |
17 | g.80113320C= | CA2277815508 | GAA | c.2143C= (p.Gln715=) c.*281C= (n.*281C=) c.562C= | |
17 | g.80113320C>G | CA401370577 | GAA | c.2143C>G (p.Gln715Glu) c.*281C>G (n.*281C>G) c.562C>G | gnomAD v4 |
17 | g.80113320C>T | CA401370578 | GAA | c.2143C>T (p.Gln715Ter) c.*281C>T (n.*281C>T) c.562C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80113321A>C | CA401370579 | GAA | c.2144A>C (p.Gln715Pro) c.*282A>C (n.*282A>C) c.563A>C | |
17 | g.80113321A>G | CA401370580 | GAA | c.2144A>G (p.Gln715Arg) c.*282A>G (n.*282A>G) c.563A>G | gnomAD v4 |
17 | g.80113321A>T | CA401370581 | GAA | c.2144A>T (p.Gln715Leu) c.*282A>T (n.*282A>T) c.563A>T | |
17 | g.80113322G>A | CA502179240 | GAA | c.2145G>A (p.Gln715=) c.*283G>A (n.*283G>A) c.564G>A | |
17 | g.80113322G>C | CA401370583 | GAA | c.2145G>C (p.Gln715His) c.*283G>C (n.*283G>C) c.564G>C | |
17 | g.80113322G>T | CA401370582 | GAA | c.2145G>T (p.Gln715His) c.*283G>T (n.*283G>T) c.564G>T | gnomAD v4 |
17 | g.80113323G>A | CA401370584 | GAA | c.2146G>A (p.Ala716Thr) c.*284G>A (n.*284G>A) c.565G>A | gnomAD v4 |
17 | g.80113323G>C | CA401370585 | GAA | c.2146G>C (p.Ala716Pro) c.*284G>C (n.*284G>C) c.565G>C | dbSNP gnomAD v4 |
17 | g.80113323G= | CA2277815509 | GAA | c.2146G= (p.Ala716=) c.*284G= (n.*284G=) c.565G= | |
17 | g.80113323G>T | CA401370586 | GAA | c.2146G>T (p.Ala716Ser) c.*284G>T (n.*284G>T) c.565G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80113324C>A | CA401370587 | GAA | c.2147C>A (p.Ala716Asp) c.*285C>A (n.*285C>A) c.566C>A | gnomAD v4 |
17 | g.80113324C>G | CA401370588 | GAA | c.2147C>G (p.Ala716Gly) c.*285C>G (n.*285C>G) c.566C>G | |
17 | g.80113324C>T | CA401370589 | GAA | c.2147C>T (p.Ala716Val) c.*285C>T (n.*285C>T) c.566C>T | gnomAD v4 COSMIC |
17 | g.80113325C>A | CA502179242 | GAA | c.2148C>A (p.Ala716=) c.*286C>A (n.*286C>A) c.567C>A | ClinVar dbSNP gnomAD v4 |
17 | g.80113325C= | CA2277815510 | GAA | c.2148C= (p.Ala716=) c.*286C= (n.*286C=) c.567C= | |
17 | g.80113325C>G | CA502179243 | GAA | c.2148C>G (p.Ala716=) c.*286C>G (n.*286C>G) c.567C>G | ClinVar dbSNP gnomAD v4 |
17 | g.80113325C>T | CA8815624 | GAA | c.2148C>T (p.Ala716=) c.*286C>T (n.*286C>T) c.567C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80113326C>A | CA401370590 | GAA | c.2149C>A (p.His717Asn) c.*287C>A (n.*287C>A) c.568C>A | gnomAD v4 |
17 | g.80113326C>G | CA401370592 | GAA | c.2149C>G (p.His717Asp) c.*287C>G (n.*287C>G) c.568C>G | |
17 | g.80113326C>T | CA401370591 | GAA | c.2149C>T (p.His717Tyr) c.*287C>T (n.*287C>T) c.568C>T | gnomAD v4 |
17 | g.80113327A>C | CA401370593 | GAA | c.2150A>C (p.His717Pro) c.*288A>C (n.*288A>C) c.569A>C | |
17 | g.80113327A>G | CA401370594 | GAA | c.2150A>G (p.His717Arg) c.*288A>G (n.*288A>G) c.569A>G | gnomAD v4 |
17 | g.80113327A>T | CA401370595 | GAA | c.2150A>T (p.His717Leu) c.*288A>T (n.*288A>T) c.569A>T | |
17 | g.80113328C>A | CA401370596 | GAA | c.2151C>A (p.His717Gln) c.*289C>A (n.*289C>A) c.570C>A | gnomAD v4 |
17 | g.80113328C= | CA2277815511 | GAA | c.2151C= (p.His717=) c.*289C= (n.*289C=) c.570C= | |
17 | g.80113328C>G | CA401370597 | GAA | c.2151C>G (p.His717Gln) c.*289C>G (n.*289C>G) c.570C>G | |
17 | g.80113328C>T | CA8815625 | GAA | c.2151C>T (p.His717=) c.*289C>T (n.*289C>T) c.570C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113329G>A | CA8815626 | GAA | c.2152G>A (p.Val718Ile) c.*290G>A (n.*290G>A) c.571G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113329G>C | CA401370598 | GAA | c.2152G>C (p.Val718Leu) c.*290G>C (n.*290G>C) c.571G>C | ClinVar gnomAD v4 |
17 | g.80113329G= | CA2277815512 | GAA | c.2152G= (p.Val718=) c.*290G= (n.*290G=) c.571G= | |
17 | g.80113329G>T | CA401370599 | GAA | c.2152G>T (p.Val718Phe) c.*290G>T (n.*290G>T) c.571G>T | gnomAD v4 |
17 | g.80113329_80113333delinsGTCGC | CA2277815513 | GAA | c.2152_2156delinsGTCGC (p.Val718=) c.*290_*294delinsGTCGC (n.*290_*294delinsGTCGC) c.571_575delinsGTCGC | |
17 | g.80113330T>A | CA401370600 | GAA | c.2153T>A (p.Val718Asp) c.*291T>A (n.*291T>A) c.572T>A | |
17 | g.80113330T>C | CA401370601 | GAA | c.2153T>C (p.Val718Ala) c.*291T>C (n.*291T>C) c.572T>C | COSMIC |
17 | g.80113330T>G | CA401370602 | GAA | c.2153T>G (p.Val718Gly) c.*291T>G (n.*291T>G) c.572T>G | |
17 | g.80113330_80113333delinsACGCCG | CA919905225 | GAA | c.2153_2156delinsACGCCG (p.Val718AspfsTer?) c.*291_*294delinsACGCCG (n.*291_*294delinsACGCCG) c.572_575delinsACGCCG | dbSNP |
17 | g.80113331C>A | CA502179245 | GAA | c.2154C>A (p.Val718=) c.*292C>A (n.*292C>A) c.573C>A | gnomAD v4 |
17 | g.80113331C= | CA2277815514 | GAA | c.2154C= (p.Val718=) c.*292C= (n.*292C=) c.573C= | |
17 | g.80113331C>G | CA502179246 | GAA | c.2154C>G (p.Val718=) c.*292C>G (n.*292C>G) c.573C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113331C>T | CA8815627 | GAA | c.2154C>T (p.Val718=) c.*292C>T (n.*292C>T) c.573C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113332G>A | CA8815629 | GAA | c.2155G>A (p.Ala719Thr) c.*293G>A (n.*293G>A) c.574G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80113332G>C | CA401370603 | GAA | c.2155G>C (p.Ala719Pro) c.*293G>C (n.*293G>C) c.574G>C | |
17 | g.80113332G= | CA2277815515 | GAA | c.2155G= (p.Ala719=) c.*293G= (n.*293G=) c.574G= | |
17 | g.80113332G>T | CA8815628 | GAA | c.2155G>T (p.Ala719Ser) c.*293G>T (n.*293G>T) c.574G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113333C>A | CA240427 | GAA | c.2156C>A (p.Ala719Glu) c.*294C>A (n.*294C>A) c.575C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113333C= | CA2277815516 | GAA | c.2156C= (p.Ala719=) c.*294C= (n.*294C=) c.575C= | |
17 | g.80113333C>G | CA401370604 | GAA | c.2156C>G (p.Ala719Gly) c.*294C>G (n.*294C>G) c.575C>G | |
17 | g.80113333C>T | CA8815630 | GAA | c.2156C>T (p.Ala719Val) c.*294C>T (n.*294C>T) c.575C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113333dup | CA913014065 | GAA | c.2156dup (p.Glu721GlyfsTer16) c.*294dup (n.*294dup) c.575dup | |
17 | g.80113333_80113334delinsCG | CA2277815517 | GAA | c.2156_2157delinsCG (p.Ala719=) c.*294_*295delinsCG (n.*294_*295delinsCG) c.575_576delinsCG | |
17 | g.80113335_80113344dup | CA2576414204 | GAA | c.2158_2167dup (p.Val723GlyfsTer17) c.*296_*305dup (n.*296_*305dup) c.577_586dup | |
17 | g.80113334G>A | CA240430 | GAA | c.2157G>A (p.Ala719=) c.*295G>A (n.*295G>A) c.576G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113334G>C | CA502179252 | GAA | c.2157G>C (p.Ala719=) c.*295G>C (n.*295G>C) c.576G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80113334G= | CA2277815518 | GAA | c.2157G= (p.Ala719=) c.*295G= (n.*295G=) c.576G= | |
17 | g.80113334G>T | CA502179253 | GAA | c.2157G>T (p.Ala719=) c.*295G>T (n.*295G>T) c.576G>T | ClinVar gnomAD v4 |
17 | g.80113338dup | CA658795275 | GAA | c.2161dup (p.Glu721GlyfsTer16) c.*299dup (n.*299dup) c.580dup | ClinVar dbSNP gnomAD v4 |
17 | g.80113338del | CA913187393 | GAA | c.2161del (p.Glu721ArgfsTer?) c.*299del (n.*299del) c.580del | ClinVar dbSNP gnomAD v4 |
17 | g.80113335G>A | CA401370605 | GAA | c.2158G>A (p.Gly720Arg) c.*296G>A (n.*296G>A) c.577G>A | gnomAD v4 |
17 | g.80113335G>C | CA401370606 | GAA | c.2158G>C (p.Gly720Arg) c.*296G>C (n.*296G>C) c.577G>C | |
17 | g.80113335G>T | CA401370607 | GAA | c.2158G>T (p.Gly720Trp) c.*296G>T (n.*296G>T) c.577G>T | gnomAD v4 |
17 | g.80113336G>A | CA8815631 | GAA | c.2159G>A (p.Gly720Glu) c.*297G>A (n.*297G>A) c.578G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80113336G>C | CA401370608 | GAA | c.2159G>C (p.Gly720Ala) c.*297G>C (n.*297G>C) c.578G>C | |
17 | g.80113336G= | CA2277815519 | GAA | c.2159G= (p.Gly720=) c.*297G= (n.*297G=) c.578G= | |
17 | g.80113336G>T | CA401370609 | GAA | c.2159G>T (p.Gly720Val) c.*297G>T (n.*297G>T) c.578G>T | gnomAD v4 |
17 | g.80113337G>A | CA502179254 | GAA | c.2160G>A (p.Gly720=) c.*298G>A (n.*298G>A) c.579G>A | |
17 | g.80113337G>C | CA502179255 | GAA | c.2160G>C (p.Gly720=) c.*298G>C (n.*298G>C) c.579G>C | |
17 | g.80113337G>T | CA502179257 | GAA | c.2160G>T (p.Gly720=) c.*298G>T (n.*298G>T) c.579G>T | gnomAD v4 |
17 | g.80113338G>A | CA401370610 | GAA | c.2161G>A (p.Glu721Lys) c.*299G>A (n.*299G>A) c.580G>A | gnomAD v4 |
17 | g.80113338G>C | CA8815632 | GAA | c.2161G>C (p.Glu721Gln) c.*299G>C (n.*299G>C) c.580G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113338G= | CA2277815520 | GAA | c.2161G= (p.Glu721=) c.*299G= (n.*299G=) c.580G= | |
17 | g.80113338G>T | CA401370611 | GAA | c.2161G>T (p.Glu721Ter) c.*299G>T (n.*299G>T) c.580G>T | ClinVar dbSNP gnomAD v4 |
17 | g.80113339A>C | CA401370614 | GAA | c.2162A>C (p.Glu721Ala) c.*300A>C (n.*300A>C) c.581A>C | |
17 | g.80113339A>G | CA401370612 | GAA | c.2162A>G (p.Glu721Gly) c.*300A>G (n.*300A>G) c.581A>G | gnomAD v4 |
17 | g.80113339A>T | CA401370613 | GAA | c.2162A>T (p.Glu721Val) c.*300A>T (n.*300A>T) c.581A>T | |
17 | g.80113340G>A | CA502179260 | GAA | c.2163G>A (p.Glu721=) c.*301G>A (n.*301G>A) c.582G>A | ClinVar dbSNP |
17 | g.80113340G>C | CA401370615 | GAA | c.2163G>C (p.Glu721Asp) c.*301G>C (n.*301G>C) c.582G>C | |
17 | g.80113340G>T | CA401370616 | GAA | c.2163G>T (p.Glu721Asp) c.*301G>T (n.*301G>T) c.582G>T | gnomAD v4 |
17 | g.80113341A= | CA2277815521 | GAA | c.2164A= (p.Thr722=) c.*302A= (n.*302A=) c.583A= | |
17 | g.80113341A>C | CA401370617 | GAA | c.2164A>C (p.Thr722Pro) c.*302A>C (n.*302A>C) c.583A>C | |
17 | g.80113341A>G | CA401370618 | GAA | c.2164A>G (p.Thr722Ala) c.*302A>G (n.*302A>G) c.583A>G | dbSNP gnomAD v4 |
17 | g.80113341A>T | CA8815633 | GAA | c.2164A>T (p.Thr722Ser) c.*302A>T (n.*302A>T) c.583A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113342C>A | CA401370619 | GAA | c.2165C>A (p.Thr722Asn) c.*303C>A (n.*303C>A) c.584C>A | |
17 | g.80113342C>G | CA401370620 | GAA | c.2165C>G (p.Thr722Ser) c.*303C>G (n.*303C>G) c.584C>G | |
17 | g.80113342C>T | CA401370621 | GAA | c.2165C>T (p.Thr722Ile) c.*303C>T (n.*303C>T) c.584C>T | gnomAD v4 |
17 | g.80113343del | CA2640298001 | GAA | c.2166del (p.Val723TrpfsTer?) c.*304del (n.*304del) c.585del | gnomAD v4 |
17 | g.80113343C>A | CA502179266 | GAA | c.2166C>A (p.Thr722=) c.*304C>A (n.*304C>A) c.585C>A | gnomAD v4 |
17 | g.80113343C= | CA2277815523 | GAA | c.2166C= (p.Thr722=) c.*304C= (n.*304C=) c.585C= | |
17 | g.80113343C>G | CA502179264 | GAA | c.2166C>G (p.Thr722=) c.*304C>G (n.*304C>G) c.585C>G | ClinVar gnomAD v4 |
17 | g.80113343C>T | CA8815634 | GAA | c.2166C>T (p.Thr722=) c.*304C>T (n.*304C>T) c.585C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113343_80113344insTGCGAC | CA2573154951 | GAA | c.2166_2167insTGCGAC (p.Thr722_Val723insCysAsp) c.*304_*305insTGCGAC (n.*304_*305insTGCGAC) c.585_586insTGCGAC | dbSNP |
17 | g.80113343_80113356delinsCGTGGCCCGGCCCC | CA2277815522 | GAA | c.2166_2179delinsCGTGGCCCGGCCCC (p.Thr722=) c.*304_*317delinsCGTGGCCCGGCCCC (n.*304_*317delinsCGTGGCCCGGCCCC) c.585_598delinsCGTGGCCCGGCCCC | |
17 | g.80113344G>A | CA8815635 | GAA | c.2167G>A (p.Val723Met) c.*305G>A (n.*305G>A) c.586G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80113344G>C | CA401370622 | GAA | c.2167G>C (p.Val723Leu) c.*305G>C (n.*305G>C) c.586G>C | |
17 | g.80113344G= | CA2277815524 | GAA | c.2167G= (p.Val723=) c.*305G= (n.*305G=) c.586G= | |
17 | g.80113344G>T | CA401370623 | GAA | c.2167G>T (p.Val723Leu) c.*305G>T (n.*305G>T) c.586G>T | gnomAD v4 |
17 | g.80113344_80113356delinsTGCGACGTGG | CA913184909 | GAA | c.2167_2179delinsTGCGACGTGG (p.Val723_Leu727delinsCysAspValVal) c.*305_*317delinsTGCGACGTGG (n.*305_*317delinsTGCGACGTGG) c.586_598delinsTGCGACGTGG | ClinVar dbSNP |
17 | g.80113345T>A | CA401370624 | GAA | c.2168T>A (p.Val723Glu) c.*306T>A (n.*306T>A) c.587T>A | |
17 | g.80113345T>C | CA401370626 | GAA | c.2168T>C (p.Val723Ala) c.*306T>C (n.*306T>C) c.587T>C | |
17 | g.80113345T>G | CA401370625 | GAA | c.2168T>G (p.Val723Gly) c.*306T>G (n.*306T>G) c.587T>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80113345T= | CA2277815525 | GAA | c.2168T= (p.Val723=) c.*306T= (n.*306T=) c.587T= | |
17 | g.80113348_80113365del | CA2640298067 | GAA | c.2171_2188del (p.Ala724_Leu729del) c.*309_*326del (n.*309_*326del) c.590_607del | gnomAD v4 |
17 | g.80113346G>A | CA502179267 | GAA | c.2169G>A (p.Val723=) c.*307G>A (n.*307G>A) c.588G>A | ClinVar gnomAD v4 |
17 | g.80113346G>C | CA502179268 | GAA | c.2169G>C (p.Val723=) c.*307G>C (n.*307G>C) c.588G>C | |
17 | g.80113346G>T | CA502179269 | GAA | c.2169G>T (p.Val723=) c.*307G>T (n.*307G>T) c.588G>T | gnomAD v4 |
17 | g.80113347G>A | CA401370627 | GAA | c.2170G>A (p.Ala724Thr) c.*308G>A (n.*308G>A) c.589G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80113347G>C | CA401370629 | GAA | c.2170G>C (p.Ala724Pro) c.*308G>C (n.*308G>C) c.589G>C | |
17 | g.80113347G= | CA2277815527 | GAA | c.2170G= (p.Ala724=) c.*308G= (n.*308G=) c.589G= | |
17 | g.80113347G>T | CA401370628 | GAA | c.2170G>T (p.Ala724Ser) c.*308G>T (n.*308G>T) c.589G>T | gnomAD v4 |
17 | g.80113347_80113348delinsGC | CA2277815526 | GAA | c.2170_2171delinsGC (p.Ala724=) c.*308_*309delinsGC (n.*308_*309delinsGC) c.589_590delinsGC | |
17 | g.80113348C>A | CA401370630 | GAA | c.2171C>A (p.Ala724Asp) c.*309C>A (n.*309C>A) c.590C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80113348C= | CA2277815528 | GAA | c.2171C= (p.Ala724=) c.*309C= (n.*309C=) c.590C= | |
17 | g.80113348C>G | CA401370631 | GAA | c.2171C>G (p.Ala724Gly) c.*309C>G (n.*309C>G) c.590C>G | |
17 | g.80113348C>T | CA401370632 | GAA | c.2171C>T (p.Ala724Val) c.*309C>T (n.*309C>T) c.590C>T | gnomAD v4 |
17 | g.80113350del | CA986708846 | GAA | c.2173del (p.Arg725GlyfsTer?) c.*311del (n.*311del) c.592del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80113349C>A | CA502179272 | GAA | c.2172C>A (p.Ala724=) c.*310C>A (n.*310C>A) c.591C>A | gnomAD v4 |
17 | g.80113349C= | CA2277815529 | GAA | c.2172C= (p.Ala724=) c.*310C= (n.*310C=) c.591C= | |
17 | g.80113349C>G | CA502179273 | GAA | c.2172C>G (p.Ala724=) c.*310C>G (n.*310C>G) c.591C>G | |
17 | g.80113349C>T | CA502179274 | GAA | c.2172C>T (p.Ala724=) c.*310C>T (n.*310C>T) c.591C>T | ClinVar dbSNP gnomAD v4 |
17 | g.80113350C>A | CA502179275 | GAA | c.2173C>A (p.Arg725=) c.*311C>A (n.*311C>A) c.592C>A | dbSNP gnomAD v4 |
17 | g.80113350C= | CA2277815530 | GAA | c.2173C= (p.Arg725=) c.*311C= (n.*311C=) c.592C= | |
17 | g.80113350C>G | CA401370633 | GAA | c.2173C>G (p.Arg725Gly) c.*311C>G (n.*311C>G) c.592C>G | |
17 | g.80113350C>T | CA116598 | GAA | c.2173C>T (p.Arg725Trp) c.*311C>T (n.*311C>T) c.592C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.80113351G>A | CA8815636 | GAA | c.2174G>A (p.Arg725Gln) c.*312G>A (n.*312G>A) c.593G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113351G>C | CA401370634 | GAA | c.2174G>C (p.Arg725Pro) c.*312G>C (n.*312G>C) c.593G>C | |
17 | g.80113351G= | CA2277815531 | GAA | c.2174G= (p.Arg725=) c.*312G= (n.*312G=) c.593G= | |
17 | g.80113351G>T | CA401370635 | GAA | c.2174G>T (p.Arg725Leu) c.*312G>T (n.*312G>T) c.593G>T | ClinVar gnomAD v4 |
17 | g.80113352G>A | CA502179276 | GAA | c.2175G>A (p.Arg725=) c.*313G>A (n.*313G>A) c.594G>A | gnomAD v4 |
17 | g.80113352G>C | CA502179277 | GAA | c.2175G>C (p.Arg725=) c.*313G>C (n.*313G>C) c.594G>C | gnomAD v4 |
17 | g.80113352G>T | CA502179278 | GAA | c.2175G>T (p.Arg725=) c.*313G>T (n.*313G>T) c.594G>T | ClinVar dbSNP gnomAD v4 |
17 | g.80113353C>A | CA401370636 | GAA | c.2176C>A (p.Pro726Thr) c.*314C>A (n.*314C>A) c.595C>A | gnomAD v4 |
17 | g.80113353C>G | CA401370637 | GAA | c.2176C>G (p.Pro726Ala) c.*314C>G (n.*314C>G) c.595C>G | |
17 | g.80113353C>T | CA401370638 | GAA | c.2176C>T (p.Pro726Ser) c.*314C>T (n.*314C>T) c.595C>T | gnomAD v4 |
17 | g.80113356del | CA2640298227 | GAA | c.2179del (p.Leu727SerfsTer?) c.*317del (n.*317del) c.598del | gnomAD v4 |
17 | g.80113354C>A | CA401370641 | GAA | c.2177C>A (p.Pro726His) c.*315C>A (n.*315C>A) c.596C>A | gnomAD v4 |
17 | g.80113354C= | CA2277815532 | GAA | c.2177C= (p.Pro726=) c.*315C= (n.*315C=) c.596C= | |
17 | g.80113354C>G | CA401370640 | GAA | c.2177C>G (p.Pro726Arg) c.*315C>G (n.*315C>G) c.596C>G | |
17 | g.80113354C>T | CA401370639 | GAA | c.2177C>T (p.Pro726Leu) c.*315C>T (n.*315C>T) c.596C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80113355C>A | CA502179279 | GAA | c.2178C>A (p.Pro726=) c.*316C>A (n.*316C>A) c.597C>A | ClinVar dbSNP gnomAD v4 |
17 | g.80113355C= | CA2277815533 | GAA | c.2178C= (p.Pro726=) c.*316C= (n.*316C=) c.597C= | |
17 | g.80113355C>G | CA502179280 | GAA | c.2178C>G (p.Pro726=) c.*316C>G (n.*316C>G) c.597C>G | ClinVar gnomAD v4 |
17 | g.80113355C>T | CA502179281 | GAA | c.2178C>T (p.Pro726=) c.*316C>T (n.*316C>T) c.597C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80113356C>A | CA401370642 | GAA | c.2179C>A (p.Leu727Ile) c.*317C>A (n.*317C>A) c.598C>A | gnomAD v4 |
17 | g.80113356C= | CA2277815534 | GAA | c.2179C= (p.Leu727=) c.*317C= (n.*317C=) c.598C= | |
17 | g.80113356C>G | CA401370643 | GAA | c.2179C>G (p.Leu727Val) c.*317C>G (n.*317C>G) c.598C>G | |
17 | g.80113356C>T | CA401370644 | GAA | c.2179C>T (p.Leu727Phe) c.*317C>T (n.*317C>T) c.598C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |